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GENATLAS PHENOTYPE
last update : 12-05-2009
Symbol ALSPD
Location 15q21.2
Name amyotophic lateral sclerosis-parkinsonism/dementia complex of Guam
Other name(s) Guam disease
Corresponding gene TRPM7
Main clinical features
  • either autosomal dominant with complete penetrance in males and only about 50% penetrance in females, either local environmental factors most likely involved in pathogenesis, chronic, progressive, and uniformly fatal disorder,
    • high incidence among the Chamorro people of Guam, also in Japan and in southwest New Guinea
    Genetic determination autosomal dominant
    Function/system disorder neurology
    Type susceptibility factor
    Gene product
    Name TRPM7 variant
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     T1482I increasing the risk of ALSPD, in association with prolonged exposure to an environment severly deficient in calcium and magnesium such in the Western Pacific
    Remark(s) accumulation of TARDBP is a common process in this neurodegenerative disorder